Distal Spinal Muscular Atrophy Type 3 (DSMA3)

Distal Spinal Muscular Atrophy Type 3(来自ICD-11)

别称:

Autosomal Recessive Distal Spinal Muscular Atrophy Type 3

Distal Hereditary Motor Neuropathy Type 3 and Type 4

Dhmn3 and Dhmn4

Dsma3

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Distal Spinal Muscular Atrophy Type 3, also known as autosomal recessive distal spinal muscular atrophy type 3, is related to neuronopathy, distal hereditary motor, x-linked and neuronopathy, distal hereditary motor, autosomal recessive 3. An important gene associated with Distal Spinal Muscular Atrophy Type 3 is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport.

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